Canonical Allele Identifier: CA269780

Gene: POMT2

Linked Data

• ClinVar Variation Id: 130015
• ClinVar RCV Id: RCV000118039 ; RCV000725964 ; RCV001344111 ; RCV003226202 ; RCV003474721
• dbSNP Id: rs587780422
• ExAC: 14:77765027 C / T
• gnomAD v2: 14-77765027-C-T
• gnomAD v4: 14-77298684-C-T
• MyVariant Identifiers: chr14:g.77765027C>T (hg19) ; chr14:g.77298684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298684C>T , CM000676.2:g.77298684C>T	GRCh38
NC_000014.8:g.77765027C>T , CM000676.1:g.77765027C>T	GRCh37
NC_000014.7:g.76834780C>T	NCBI36
NG_008897.1:g.27199G>A , LRG_844:g.27199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.547+5G>A	ENSP00000451967.2:n.547+5G>A
ENST00000557289.2:c.304+5G>A
ENST00000682247.1:c.1006+5G>A	ENSP00000507213.1:n.1006+5G>A
ENST00000682382.1:c.578+5G>A
ENST00000682395.1:n.735+5G>A
ENST00000682459.1:n.670+5G>A
ENST00000682467.1:c.1006+5G>A	ENSP00000508062.1:n.1006+5G>A
ENST00000682795.1:c.1006+5G>A	ENSP00000507574.1:n.1006+5G>A
ENST00000682895.1:n.722+5G>A
ENST00000682955.1:n.294+5G>A
ENST00000683188.1:c.532+5G>A
ENST00000683300.1:c.110-2411G>A	ENSP00000507630.1:n.110-2411G>A
ENST00000683328.1:c.109+6008G>A	ENSP00000508096.1:n.109+6008G>A
ENST00000683380.1:n.670+5G>A
ENST00000683828.1:c.715+5G>A
ENST00000684259.1:n.857+5G>A
ENST00000684549.1:n.557+5G>A
ENST00000684554.1:c.243+5G>A
ENST00000261534.9:c.1006+5G>A MANE Select	ENSP00000261534.4:n.1006+5G>A
ENST00000261534.8:c.1006+5G>A	ENSP00000261534.4:n.1006+5G>A
ENST00000452340.7:n.1029+5G>A
ENST00000554767.5:n.1792+5G>A
ENST00000557289.1:c.245+5G>A	ENSP00000451115.1:n.245+5G>A
NM_013382.5:c.1006+5G>A , LRG_844t1:c.1006+5G>A	NP_037514.2:n.1006+5G>A
XM_011536675.1:c.1006+5G>A	XP_011534977.1:n.1006+5G>A
XM_011536676.1:c.673+5G>A	XP_011534978.1:n.673+5G>A
XM_011536677.1:c.548-2411G>A	XP_011534979.1:n.548-2411G>A
XM_011536678.1:c.1006+5G>A	XP_011534980.1:n.1006+5G>A
XM_011536679.1:c.100+5G>A	XP_011534981.1:n.100+5G>A
XM_011536680.1:c.1006+5G>A	XP_011534982.1:n.1006+5G>A
XR_943416.1:n.1209+5G>A
XM_011536675.2:c.1006+5G>A	XP_011534977.1:n.1006+5G>A
XM_011536676.2:c.673+5G>A	XP_011534978.1:n.673+5G>A
XM_011536677.3:c.548-2411G>A	XP_011534979.1:n.548-2411G>A
XR_001750279.1:n.1206+5G>A
XR_001750282.1:n.1210+5G>A
XR_943416.3:n.1207+5G>A
NM_013382.6:c.1006+5G>A	NP_037514.2:n.1006+5G>A
NM_013382.7:c.1006+5G>A MANE Select	NP_037514.2:n.1006+5G>A